Incidental Mutation 'R1503:Atf7ip'
| ID |
169442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf7ip
|
| Ensembl Gene |
ENSMUSG00000030213 |
| Gene Name |
activating transcription factor 7 interacting protein |
| Synonyms |
ATFa-associated Modulator, AM, 2610204M12Rik, Mcaf1 |
| MMRRC Submission |
039553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R1503 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136495787-136587848 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 136583865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1299
(V1299L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032335]
|
| AlphaFold |
Q7TT18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032335
AA Change: V1299L
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: V1299L
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
123 |
144 |
9.59e-5 |
PROSPERO |
|
internal_repeat_1
|
143 |
164 |
9.59e-5 |
PROSPERO |
|
low complexity region
|
184 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
582 |
N/A |
INTRINSIC |
|
Pfam:ATF7IP_BD
|
598 |
813 |
5.5e-62 |
PFAM |
|
low complexity region
|
864 |
889 |
N/A |
INTRINSIC |
|
PDB:2RPQ|B
|
974 |
1017 |
5e-7 |
PDB |
|
low complexity region
|
1022 |
1036 |
N/A |
INTRINSIC |
|
low complexity region
|
1038 |
1050 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1112 |
N/A |
INTRINSIC |
|
low complexity region
|
1168 |
1192 |
N/A |
INTRINSIC |
|
FN3
|
1194 |
1288 |
3.4e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185332
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Atp12a |
A |
T |
14: 56,610,881 (GRCm39) |
N342Y |
probably damaging |
Het |
| Atp8b5 |
G |
A |
4: 43,344,430 (GRCm39) |
G439D |
probably damaging |
Het |
| Bpifb2 |
G |
A |
2: 153,731,430 (GRCm39) |
D269N |
possibly damaging |
Het |
| Btd |
T |
G |
14: 31,389,612 (GRCm39) |
C444W |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,328,575 (GRCm39) |
D1624G |
probably benign |
Het |
| Carmil3 |
A |
C |
14: 55,735,737 (GRCm39) |
N563T |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,122,726 (GRCm39) |
R538G |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,961,525 (GRCm39) |
K416E |
possibly damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,852,581 (GRCm39) |
Y386F |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,906,760 (GRCm39) |
N66S |
probably benign |
Het |
| Cd48 |
T |
A |
1: 171,523,415 (GRCm39) |
L86H |
probably damaging |
Het |
| Cdan1 |
A |
T |
2: 120,560,056 (GRCm39) |
H369Q |
probably damaging |
Het |
| Chil4 |
T |
C |
3: 106,113,350 (GRCm39) |
D189G |
probably benign |
Het |
| Cit |
T |
A |
5: 116,011,959 (GRCm39) |
Y189N |
possibly damaging |
Het |
| Cntn3 |
G |
A |
6: 102,441,526 (GRCm39) |
Q7* |
probably null |
Het |
| Csn1s2a |
A |
T |
5: 87,923,658 (GRCm39) |
I5F |
possibly damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,435,523 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
T |
9: 54,354,272 (GRCm39) |
Y391* |
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,495,649 (GRCm39) |
S1426P |
probably damaging |
Het |
| Dnhd1 |
T |
G |
7: 105,342,867 (GRCm39) |
S1404A |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,848,159 (GRCm39) |
C484S |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,582,736 (GRCm39) |
I125F |
probably damaging |
Het |
| Egfr |
T |
A |
11: 16,819,301 (GRCm39) |
M277K |
possibly damaging |
Het |
| Eml5 |
G |
T |
12: 98,797,433 (GRCm39) |
L1059I |
probably damaging |
Het |
| Erbb4 |
G |
T |
1: 68,385,705 (GRCm39) |
H295N |
probably benign |
Het |
| Etl4 |
T |
G |
2: 20,748,685 (GRCm39) |
V139G |
possibly damaging |
Het |
| Fhip1a |
T |
A |
3: 85,579,784 (GRCm39) |
Y807F |
possibly damaging |
Het |
| Frem3 |
A |
T |
8: 81,413,647 (GRCm39) |
E1969D |
probably damaging |
Het |
| Gdf3 |
T |
A |
6: 122,583,296 (GRCm39) |
D357V |
probably damaging |
Het |
| Gimap8 |
T |
A |
6: 48,624,463 (GRCm39) |
|
probably null |
Het |
| Gml2 |
C |
A |
15: 74,693,201 (GRCm39) |
S68* |
probably null |
Het |
| Gphn |
A |
G |
12: 78,551,403 (GRCm39) |
I248V |
possibly damaging |
Het |
| Greb1 |
A |
T |
12: 16,774,820 (GRCm39) |
Y192* |
probably null |
Het |
| Hmbs |
A |
C |
9: 44,248,729 (GRCm39) |
L215W |
probably benign |
Het |
| Iglon5 |
T |
A |
7: 43,128,449 (GRCm39) |
T123S |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,117,607 (GRCm39) |
R705H |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,245,842 (GRCm39) |
L212Q |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,797,293 (GRCm39) |
Y846C |
probably benign |
Het |
| Kcnj1 |
A |
G |
9: 32,307,788 (GRCm39) |
T51A |
probably damaging |
Het |
| Kif9 |
A |
T |
9: 110,339,506 (GRCm39) |
K449N |
possibly damaging |
Het |
| Kifbp |
A |
G |
10: 62,395,187 (GRCm39) |
V485A |
probably damaging |
Het |
| Klk1b11 |
G |
A |
7: 43,428,333 (GRCm39) |
W241* |
probably null |
Het |
| Krt32 |
T |
C |
11: 99,974,936 (GRCm39) |
|
probably null |
Het |
| Loxl1 |
A |
G |
9: 58,200,923 (GRCm39) |
F513S |
probably damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,123,897 (GRCm39) |
S571T |
probably damaging |
Het |
| Mcam |
C |
T |
9: 44,052,588 (GRCm39) |
R606C |
probably damaging |
Het |
| Mtss1 |
T |
C |
15: 58,823,521 (GRCm39) |
N282S |
probably damaging |
Het |
| Myh13 |
T |
A |
11: 67,244,500 (GRCm39) |
D1012E |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,552,817 (GRCm39) |
T952A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,188,632 (GRCm39) |
D874G |
probably damaging |
Het |
| Nek11 |
A |
G |
9: 105,040,403 (GRCm39) |
Y553H |
probably damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,082,312 (GRCm39) |
V9D |
probably benign |
Het |
| Nxf1 |
T |
A |
19: 8,739,800 (GRCm39) |
F51L |
probably benign |
Het |
| Or1e1f |
T |
G |
11: 73,855,394 (GRCm39) |
|
probably null |
Het |
| Or1j15 |
A |
T |
2: 36,458,885 (GRCm39) |
I92F |
probably damaging |
Het |
| Or2aj5 |
A |
G |
16: 19,425,062 (GRCm39) |
S119P |
probably benign |
Het |
| Or4c35 |
T |
C |
2: 89,808,872 (GRCm39) |
V250A |
probably damaging |
Het |
| Or5bw2 |
A |
G |
7: 6,573,470 (GRCm39) |
N160S |
probably damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,191 (GRCm39) |
S220P |
probably damaging |
Het |
| Or6z6 |
T |
C |
7: 6,491,178 (GRCm39) |
I232V |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,572 (GRCm39) |
N76Y |
probably damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,297,685 (GRCm39) |
F217I |
probably damaging |
Het |
| Ppp1r16a |
T |
A |
15: 76,578,599 (GRCm39) |
H434Q |
probably benign |
Het |
| Prpf19 |
T |
A |
19: 10,878,386 (GRCm39) |
F291I |
possibly damaging |
Het |
| R3hdm2 |
G |
T |
10: 127,307,695 (GRCm39) |
E319* |
probably null |
Het |
| Sel1l3 |
A |
G |
5: 53,295,271 (GRCm39) |
Y777H |
probably damaging |
Het |
| Serpinb5 |
G |
A |
1: 106,798,019 (GRCm39) |
A3T |
possibly damaging |
Het |
| Skp2 |
C |
A |
15: 9,127,998 (GRCm39) |
V88F |
probably damaging |
Het |
| Slc25a16 |
T |
C |
10: 62,764,155 (GRCm39) |
Y71H |
probably damaging |
Het |
| Slc6a6 |
T |
A |
6: 91,717,973 (GRCm39) |
I304N |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Sox17 |
C |
A |
1: 4,562,151 (GRCm39) |
G222C |
probably damaging |
Het |
| Trmu |
T |
A |
15: 85,779,220 (GRCm39) |
V289E |
possibly damaging |
Het |
| Vdac2 |
A |
G |
14: 21,887,945 (GRCm39) |
E96G |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,484,857 (GRCm39) |
D885E |
probably benign |
Het |
| Zfp646 |
A |
G |
7: 127,479,308 (GRCm39) |
N495S |
probably damaging |
Het |
| Zfp663 |
T |
C |
2: 165,194,573 (GRCm39) |
T549A |
probably damaging |
Het |
| Zfp935 |
G |
A |
13: 62,602,951 (GRCm39) |
A83V |
possibly damaging |
Het |
|
| Other mutations in Atf7ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00844:Atf7ip
|
APN |
6 |
136,537,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01483:Atf7ip
|
APN |
6 |
136,564,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02313:Atf7ip
|
APN |
6 |
136,583,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02319:Atf7ip
|
APN |
6 |
136,570,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02547:Atf7ip
|
APN |
6 |
136,580,274 (GRCm39) |
splice site |
probably benign |
|
|
IGL02869:Atf7ip
|
APN |
6 |
136,583,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02895:Atf7ip
|
APN |
6 |
136,537,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02967:Atf7ip
|
APN |
6 |
136,583,725 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03026:Atf7ip
|
APN |
6 |
136,582,380 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
fuegado
|
UTSW |
6 |
136,537,708 (GRCm39) |
missense |
probably benign |
|
|
Outtahere
|
UTSW |
6 |
136,542,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Severance
|
UTSW |
6 |
136,536,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0024:Atf7ip
|
UTSW |
6 |
136,576,818 (GRCm39) |
splice site |
probably benign |
|
|
R0045:Atf7ip
|
UTSW |
6 |
136,536,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Atf7ip
|
UTSW |
6 |
136,536,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Atf7ip
|
UTSW |
6 |
136,537,987 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0331:Atf7ip
|
UTSW |
6 |
136,538,161 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0415:Atf7ip
|
UTSW |
6 |
136,537,010 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0490:Atf7ip
|
UTSW |
6 |
136,586,190 (GRCm39) |
unclassified |
probably benign |
|
|
R0526:Atf7ip
|
UTSW |
6 |
136,536,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1663:Atf7ip
|
UTSW |
6 |
136,580,322 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1793:Atf7ip
|
UTSW |
6 |
136,586,217 (GRCm39) |
unclassified |
probably benign |
|
|
R1822:Atf7ip
|
UTSW |
6 |
136,564,258 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1873:Atf7ip
|
UTSW |
6 |
136,536,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Atf7ip
|
UTSW |
6 |
136,537,778 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2059:Atf7ip
|
UTSW |
6 |
136,586,346 (GRCm39) |
unclassified |
probably benign |
|
|
R2134:Atf7ip
|
UTSW |
6 |
136,582,485 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2679:Atf7ip
|
UTSW |
6 |
136,543,649 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3430:Atf7ip
|
UTSW |
6 |
136,552,322 (GRCm39) |
unclassified |
probably benign |
|
|
R3755:Atf7ip
|
UTSW |
6 |
136,537,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3756:Atf7ip
|
UTSW |
6 |
136,537,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3890:Atf7ip
|
UTSW |
6 |
136,564,043 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4190:Atf7ip
|
UTSW |
6 |
136,564,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4494:Atf7ip
|
UTSW |
6 |
136,540,747 (GRCm39) |
splice site |
probably null |
|
|
R4588:Atf7ip
|
UTSW |
6 |
136,576,692 (GRCm39) |
missense |
probably benign |
|
|
R4618:Atf7ip
|
UTSW |
6 |
136,542,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Atf7ip
|
UTSW |
6 |
136,538,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Atf7ip
|
UTSW |
6 |
136,573,489 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4922:Atf7ip
|
UTSW |
6 |
136,537,039 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4956:Atf7ip
|
UTSW |
6 |
136,583,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Atf7ip
|
UTSW |
6 |
136,583,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4958:Atf7ip
|
UTSW |
6 |
136,583,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Atf7ip
|
UTSW |
6 |
136,559,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Atf7ip
|
UTSW |
6 |
136,538,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5075:Atf7ip
|
UTSW |
6 |
136,537,232 (GRCm39) |
missense |
probably benign |
|
|
R5279:Atf7ip
|
UTSW |
6 |
136,580,377 (GRCm39) |
nonsense |
probably null |
|
|
R5445:Atf7ip
|
UTSW |
6 |
136,564,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Atf7ip
|
UTSW |
6 |
136,583,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5850:Atf7ip
|
UTSW |
6 |
136,543,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5891:Atf7ip
|
UTSW |
6 |
136,536,975 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5987:Atf7ip
|
UTSW |
6 |
136,548,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6168:Atf7ip
|
UTSW |
6 |
136,536,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6726:Atf7ip
|
UTSW |
6 |
136,559,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6880:Atf7ip
|
UTSW |
6 |
136,538,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6924:Atf7ip
|
UTSW |
6 |
136,536,755 (GRCm39) |
splice site |
probably null |
|
|
R7075:Atf7ip
|
UTSW |
6 |
136,573,513 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7308:Atf7ip
|
UTSW |
6 |
136,542,087 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7365:Atf7ip
|
UTSW |
6 |
136,537,708 (GRCm39) |
missense |
probably benign |
|
|
R7556:Atf7ip
|
UTSW |
6 |
136,538,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7812:Atf7ip
|
UTSW |
6 |
136,580,415 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7973:Atf7ip
|
UTSW |
6 |
136,538,062 (GRCm39) |
nonsense |
probably null |
|
|
R8032:Atf7ip
|
UTSW |
6 |
136,542,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8203:Atf7ip
|
UTSW |
6 |
136,583,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8274:Atf7ip
|
UTSW |
6 |
136,537,988 (GRCm39) |
missense |
probably benign |
|
|
R8784:Atf7ip
|
UTSW |
6 |
136,576,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8785:Atf7ip
|
UTSW |
6 |
136,564,162 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8885:Atf7ip
|
UTSW |
6 |
136,564,141 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8957:Atf7ip
|
UTSW |
6 |
136,543,701 (GRCm39) |
missense |
probably null |
0.99 |
|
R9042:Atf7ip
|
UTSW |
6 |
136,538,263 (GRCm39) |
nonsense |
probably null |
|
|
R9531:Atf7ip
|
UTSW |
6 |
136,537,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTATGCTTACCACGAGGAGCC -3'
(R):5'- CAGGAGATCGCACTGTGATACACAC -3'
Sequencing Primer
(F):5'- CCACGAGGAGCCCAGTG -3'
(R):5'- AATTGTTCAGGGAAGGCTTGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation